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Clinical Professors

Clinical Professors, Charles E. Schwartz, Ph.D. at the School of Health Research, Clemson University, Clemson South Carolina

Charles E. Schwartz, Ph.D.

Director of Research and Head of JC Self Research Institute
Director, Center for Molecular Studies

Senior Research Scientist
Greenwood Genetic Center

Contact: 864-941-8140 or ceschwartz@ggc.org  


Who is Dr. Schwartz?

Born in Roslyn, N.Y., Charles Edward Schwartz received a BA degree (major in chemistry) from Colgate University (1970). Subsequently, he earned a MS in Biochemistry from Oklahoma State University (1972) and a Ph.D in Biochemistry from Vanderbilt University (1978). Dr. Schwartz was a postdoctoral fellow in Biochemistry at the University of Vermont before joining the La Jolla Cancer Research Foundation as a Research Scientist in 1980. He moved to Salt Lake City where he was a Research Associate in the Department of Human Genetics at the University of Utah from 1983-1985.

In 1985 Dr. Schwartz joined the Greenwood Genetic Center to create the DNA Laboratory which later became the Molecular Diagnostic Laboratory in 1994. In 1996, Dr. Schwartz became the Director of the Center for Molecular Studies in the newly created JC Self Research Institute at the Center. He became the Director of Research in 2004.

Dr. Schwartz’s research, since joining the Center, has been on intellectual disability and birth defects. Recently, his group has explored the genetics of autism. He is certified in Clinical Molecular Genetics. Dr. Schwartz has published 350 publications and co-authored two editions of an Atlas of X-linked Intellectual Disability Syndromes.

Dr. Schwartz was a founding member of the DNA Committee for SERGG (Southeast Regional Genetics Group) in 1988, was a member of the American Board of Medical Genetics (2006-2010) and President of ABMG in 2009. In 2002, Dr. Schwartz was selected Professional of the Year, SC Chapter of the American Association of Mental Retardation and was awarded the Robert Guthrie Award for Advances in Biochemical and Molecular Genetics, American Association of Mental Retardation, in 2003.

For more information, see his Greenwood Genetic Center Profile or his Curriculum Vitae.

How Dr. Schwartz’s research is transforming health care

Intellectual Disability. Dr. Schwartz’s research endeavors in the genetic causes of X-linked intellectual disability (XLID) has resulted in the identification of 27 XLID genes with the assistance of collaborators in Europe, Australia and not to mention the United States. Additionally, 28 XLID syndromes were clinically described and 19 XLID disorders were localized on the X chromosome with the assistance of Dr. Roger Stevenson. Although Dr. Schwartz continues to identify XLID genes, he has begun studies on the potential treatment of a few specific XLID disorders. In addition to XLID, Dr. Schwartz has studied families with autosomal ID. Although these studies have been small in number, his group has been able to identify a few genes responsible for autosomal ID.

Birth Defects. Utilizing patient material and clinical information from numerous families with split hand/split foot malformation (SHFM), Dr. Schwartz’s group was the first to identify a complex rearrangement in 10q24 as the cause of SHFM3. They showed that SHFM1 in 7q21 could result from chromosomal rearrangements disrupting a limb enhancer’s interaction with two developmental gens, DLX5 and DLX6. In collaboration with another group, Dr. Schwartz showed that a duplication in 17p13.3 causes SHFM with long bone deficiency. As a result of these combined findings, Dr. Schwartz’s group is considered a leader in the field of the study of limb malformations.

Autism. Dr. Schwartz’s group began to investigate the genetics of autism, now referred to as Autism Spectrum Disorders (ASD), in 1995. The group was one of the first to identify alterations in NLGN4, Neurexin 1a and Neurexin 1b as being associated the ASD. Most recently, Dr. Schwartz’s group utilized a novel metabolic platform developed by Biolog (Hayward, CA) to determine cells from individuals with ASD fail to utilize tryptophan as efficiently as controls. The group is exploring the employment of these findings as a screening test for ASD.

News and Media Related to Dr. Schwartz's Research

GGC's Schwartz Part of First Christianson Syndrome Conference

GGC Researchers Honored by Snyder-Robinson Foundation

Keck Foundation Funds GGC/UGA Collaborative Research

Self Regional Funds Genetic Research Collaborative Between GGC and Clemson

GGC Reports Autism Discovery

Schwartz Receives NIH Grant to Develop Autism Test

XLID


Key Health Research Interest Areas

X-linked Intellectual Disability, Birth Defects, Split hand/Split Foot Malformation, Autism Spectrum Disorder, Genetic causes of disabilities